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The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome
Rett syndrome is caused by mutations in the X-linked MECP2 gene, which encodes a chromosomal protein that binds to methylated DNA. Mouse models mirror the human disorder and therefore allow investigation of phenotypes at a molecular level. We describe an Mecp2 allelic series representing the three m...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4731022/ https://ncbi.nlm.nih.gov/pubmed/26647311 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv496 |
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